Home  |  Contact

UniProtKB/Swiss-Prot P54257: Variant p.Arg437Trp

Huntingtin-associated protein 1
Gene: HAP1
Variant information

Variant position:  437
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LB/B
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Arginine (R) to Tryptophan (W) at position 437 (R437W, p.Arg437Trp).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from large size and basic (R) to large size and aromatic (W)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  437
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  671
The length of the canonical sequence.

Location on the sequence:   EIQMQLQEESVWVGSQLQDL  R EKYMDCGGMLIEMQEEVKTL
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.

Residue conservation: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         EIQMQLQEESVWVGSQLQDLREKYMDCGGMLIEMQEEVKT------------------------------------------------------------------------------------------------------------------------------L

Mouse                         GI----HSESLRAGSYMQD-------YGSRPRDRQEDGKS-

Rat                           GV----HPESLRAGSHMQD-------YGSRPRERQEDGKS-

Baker's yeast                 GGSVDSNNDEIYGLPKLPD----ILNHGQHNQNLYADGRNT

Sequence annotation in neighborhood:  
The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.

TypePositionsDescription
Chain 1 – 671 Huntingtin-associated protein 1
Domain 106 – 461 HAP1 N-terminal
Alternative sequence 401 – 477 Missing. In isoform 3 and isoform 4.
Alternative sequence 426 – 477 Missing. In isoform 2.


Literature citations

Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease.
Metzger S.; Rong J.; Nguyen H.-P.; Cape A.; Tomiuk J.; Soehn A.S.; Propping P.; Freudenberg-Hua Y.; Freudenberg J.; Tong L.; Li S.-H.; Li X.-J.; Riess O.;
Hum. Mol. Genet. 17:1137-1146(2008)
Cited for: VARIANTS LEU-357; TRP-437 AND MET-493; CHARACTERIZATION OF VARIANT MET-493;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.